ECEL1

GENE INFORMATION

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Gene name

ECEL1 (HGNC Symbol)

Synonyms

DINE, XCE

Description

Endothelin converting enzyme-like 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Chromosome

2

Cytoband

q37.1

Chromosome location (bp)

232479827 - 232487828

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171551 (version 78.38)

Entrez gene

9427

UniProt

O95672 (UniProt - Evidence at protein level)

neXtProt

NX_O95672

Antibodypedia

ECEL1 antibodies
 

PROTEIN VIEW

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ECEL1-001
 
ECEL1-003
 
ECEL1-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ECEL1-001 ENSP00000302051
ENST00000304546
O95672
Show all »
Show » Show » 775 87.8 No 1
ECEL1-003 ENSP00000386333
ENST00000409941
O95672
Show all »
Show » Show » 773 87.6 No 1
ECEL1-005 ENSP00000412683
ENST00000411860
H7C3M0
Show all »
Show » Show » 168 19.8 No 0